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Clinic & Pathology

South Korea:

Samsung Medical Center

Chonnam National University Hwasun Hospital

Seoul National University Bundang Hospital

Seoul National University Hospital

Our research group’s main interest is to understand the molecular mechanisms involved in the pathogenesis of lung cancer. We aim to collect tissue and blood samples from Korean lung cancer patients, along with their clinical data.

Sequencing & Analysis

South Korea:

Samsung Medical Center

Macrogen Korea

Theragen Bio Institute

United States:

Broad Institute

Sequencing of nucleic acids from patients’ samples is done at Macrogen and/or Theragen. Bioinformatic analyses of the genomic data from a set of patients were performed in collaboration with members of Broad Institute (Drs. Matthew Meyerson, Gad Getz, Peter Hammerman, Jaegil Kim) and Samsung Medical Center (Youngwook Kim).

Complementary Studies

Details to follow

Data Storage, Analysis & Management

South Korea:

The National Project for Personalized Genomic Medicine

Genomic data is shared and stored in the server provided by PGM21, which is the funding organization of our sequencing study.

Project Summary

We aim to genomically characterize Korean lung cancer patients’ tissue samples. Currently, 104 squamous cell lung cancer samples were completed - an abstract summarizing the result of the study is provided below. In addition, we have been conducting genomic sequencing of more than 250 cases of lung cancer. We plan to analyze them and make them publically available through ICGC data portal.

Summary abstract for Korean squamous cell lung cancer study

Purpose
Lung squamous cell carcinoma (SqCC) is the second most prevalent type of lung cancer. Currently, no targeted-therapeutics are approved for treatment of this cancer, largely due to lack of systematic understanding of the molecular pathogenesis of the disease. To identify therapeutic targets and comparatively analyze them in lung SqCC, we probed somatic alterations of Korean lung SqCC.

Patients and Methods
We performed massively parallel whole-exome sequencing of 104 Korean lung SqCC patients’ samples with matched normal samples. In addition, copy number analysis and transcriptome analysis were conducted for a subset of these samples. Clinical association with cancer-specific somatic alterations was investigated.

Results
This cancer cohort is characterized by a very high mutational burden with an average of 261 somatic exonic mutations per tumor and a mutational spectrum showing a signature of cigarette-smoke exposure. Seven genes demonstrated statistical enrichment for mutation (TP53, RB1, PTEN, NFE2L2, KEAP1, MLL2 and PIK3CA) for lung SqCC. Comparative analysis between Korean and Caucasian lung SqCC demonstrated similarities and differences with respect to specific genes and pathways. Overall, the spectrum of alterations in Koreans is similar to that in Caucasians. We also uncovered recurrent occurrence of therapeutically actionable FGFR3-TACC3 fusions in lung SqCC.

Conclusion
These findings provide new steps towards the identification of genomic target candidates for precision medicine in lung SqCC with a significant unmet medical need.